ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA1139722452
Gene: BRCA1
HGNC
NCBI
Linked Data
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Transcript change
NP_009230.2:p.Pro676Arg
NM_007299.4:c.2027C>G